Ensembl_ID,HGNC_ID,Phenotype,Phenotype_MIM
ENSG00000162711,NLRP3,CINCA syndrome,607115
ENSG00000162711,NLRP3,"Deafness, autosomal dominant 34, with or without inflammation",617772
ENSG00000162711,NLRP3,Familial cold inflammatory syndrome 1,120100
ENSG00000162711,NLRP3,Keratoendothelitis fugax hereditaria,148200
ENSG00000162711,NLRP3,Muckle-Wells syndrome,191900
ENSG00000169762,TAPT1,"Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type",616897
ENSG00000122687,FTSJ2,?Mitochondrial DNA depletion syndrome 17,618567
ENSG00000109320,NFKB1,"Immunodeficiency, common variable, 12",616576
ENSG00000135678,CPM,Hailey-Hailey disease,169600
ENSG00000060069,CTDP1,"Congenital cataracts, facial dysmorphism, and neuropathy",604168
ENSG00000144354,CDCA7,Immunodeficiency-centromeric instability-facial anomalies syndrome 3,616910
ENSG00000107968,MAP3K8,"Lung cancer, somatic",211980
ENSG00000074800,ENO1,Enolase deficiency,NA
ENSG00000162367,TAL1,"Leukemia, T-cell acute lymphocytic, somatic",613065
ENSG00000258839,MC1R,"[Analgesia from kappa-opioid receptor agonist, female-specific]",613098
ENSG00000258839,MC1R,"[Skin/hair/eye pigmentation 2, blond hair/fair skin]",266300
ENSG00000258839,MC1R,"[Skin/hair/eye pigmentation 2, red hair/fair skin]",266300
ENSG00000258839,MC1R,"{Albinism, oculocutaneous, type II, modifier of}",203200
ENSG00000258839,MC1R,"{Melanoma, cutaneous malignant, 5}",613099
ENSG00000258839,MC1R,{UV-induced skin damage},266300
ENSG00000113916,BCL6,"Lymphoma, B-cell",109565
ENSG00000119772,DNMT3A,"Acute myeloid leukemia, somatic",601626
ENSG00000119772,DNMT3A,Heyn-Sproul-Jackson syndrome,618724
ENSG00000119772,DNMT3A,Tatton-Brown-Rahman syndrome,615879
ENSG00000101109,STK4,"T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations",614868
ENSG00000128829,EIF2AK4,Pulmonary venoocclusive disease 2,234810
ENSG00000008710,PKD1,Polycystic kidney disease 1,173900
ENSG00000156973,PDE6D,?Joubert syndrome 22,615665
ENSG00000204104,TRAF3IP1,Senior-Loken syndrome 9,616629
ENSG00000149260,CAPN5,"Vitreoretinopathy, neovascular inflammatory",193235
ENSG00000171298,GAA,Glycogen storage disease II,232300
ENSG00000062598,ELMO2,"Vascular malformation, primary intraosseous",606893
ENSG00000137265,IRF4,"[Skin/hair/eye pigmentation, variation in, 8]",611724
ENSG00000167658,EEF2,?Spinocerebellar ataxia 26,609306
ENSG00000117139,KDM5B,"Mental retardation, autosomal recessive 65",618109
ENSG00000185811,IKZF1,"Immunodeficiency, common variable, 13",616873
ENSG00000130598,TNNI2,"Arthrogryposis, distal, type 2B1",601680
ENSG00000168411,RFWD3,"?Fanconi anemia, complementation group W",617784
ENSG00000125864,BFSP1,"Cataract 33, multiple types",611391
ENSG00000197471,SPN,"?Dyskinesia, seizures, and intellectual developmental disorder",617171
ENSG00000197471,SPN,"Mental retardation, autosomal dominant 24",615828
ENSG00000197471,SPN,?Spermatogenic failure 30,618110
ENSG00000197471,SPN,"?Usher syndrome, type 1M",618632
ENSG00000197471,SPN,"Deafness, autosomal recessive 36",609006
ENSG00000197471,SPN,"Deafness, neurosensory, without vestibular involvement, autosomal dominant",609006
ENSG00000135503,ACVR1B,"Pancreatic cancer, somatic",NA
ENSG00000104267,CA2,?Spinocerebellar ataxia 26,609306
ENSG00000104267,CA2,"Osteopetrosis, autosomal recessive 3, with renal tubular acidosis",259730
ENSG00000085491,SLC25A24,Fontaine progeroid syndrome,612289
ENSG00000101439,CST3,"{Macular degeneration, age-related, 11}",611953
ENSG00000101439,CST3,Cerebral amyloid angiopathy,105150
ENSG00000184743,ATL3,"Neuropathy, hereditary sensory, type IF",615632
ENSG00000145495,MARCH6,"Epilepsy, familial adult myoclonic, 3",613608
ENSG00000013573,DDX11,Warsaw breakage syndrome,613398
ENSG00000091592,NLRP1,"?Respiratory papillomatosis, juvenile recurrent, congenital",618803
ENSG00000091592,NLRP1,{Vitiligo-associated multiple autoimmune disease susceptibility 1},606579
ENSG00000091592,NLRP1,Autoinflammation with arthritis and dyskeratosis,617388
ENSG00000091592,NLRP1,"Palmoplantar carcinoma, multiple self-healing",615225
ENSG00000229833,PET100,Mitochondrial complex IV deficiency,220110
ENSG00000148655,C10orf11,"Albinism, oculocutaneous, type VII",615179
ENSG00000172005,MAL,"{Malaria, mild, susceptibility to}",609148
ENSG00000172005,MAL,?Immunodeficiency 66,618847
ENSG00000129003,VPS13C,"Parkinson disease 23, autosomal recessive, early onset",616840
ENSG00000134684,YARS,"Charcot-Marie-Tooth disease, dominant intermediate C",608323
ENSG00000146918,NCAPG2,Khan-Khan-Katsanis syndrome,618460
ENSG00000126870,WDR60,Short-rib thoracic dysplasia 8 with or without polydactyly,615503
ENSG00000072274,TFRC,Immunodeficiency 46,616740
ENSG00000172037,LAMB2,"Epidermolysis bullosa, junctional, Herlitz type",226700
ENSG00000172037,LAMB2,"Epidermolysis bullosa, junctional, non-Herlitz type",226650
ENSG00000172037,LAMB2,"Nephrotic syndrome, type 5, with or without ocular abnormalities",614199
ENSG00000172037,LAMB2,Pierson syndrome,609049
ENSG00000177030,DEAF1,"?Dyskinesia, seizures, and intellectual developmental disorder",617171
ENSG00000177030,DEAF1,"Mental retardation, autosomal dominant 24",615828
ENSG00000135845,PIGC,Glycosylphosphatidylinositol biosynthesis defect 16,617816
ENSG00000087460,GNAS,"Pseudohypoparathyroidism, type IB",603233
ENSG00000087460,GNAS,ACTH-independent macronodular adrenal hyperplasia,219080
ENSG00000087460,GNAS,"McCune-Albright syndrome, somatic, mosaic",174800
ENSG00000087460,GNAS,"Osseous heteroplasia, progressive",166350
ENSG00000087460,GNAS,"Pituitary adenoma 3, multiple types, somatic",617686
ENSG00000087460,GNAS,Pseudohypoparathyroidism Ia,103580
ENSG00000087460,GNAS,Pseudohypoparathyroidism Ib,603233
ENSG00000087460,GNAS,Pseudohypoparathyroidism Ic,612462
ENSG00000087460,GNAS,Pseudopseudohypoparathyroidism,612463
ENSG00000180509,KCNE1,Jervell and Lange-Nielsen syndrome 2,612347
ENSG00000180509,KCNE1,Long QT syndrome 5,613695
ENSG00000225190,PLEKHM1,"?Osteopetrosis, autosomal recessive 6",611497
ENSG00000225190,PLEKHM1,"Osteopetrosis, autosomal dominant 3",618107
ENSG00000131165,CHMP1A,"Pontocerebellar hypoplasia, type 8",614961
ENSG00000119686,FLVCR2,Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome,225790
ENSG00000172059,KLF11,"Maturity-onset diabetes of the young, type VII",610508
ENSG00000127507,EMR2,Vibratory urticaria,125630
ENSG00000180921,FAM83H,"Amelogenesis imperfecta, type IIIA",130900
ENSG00000152582,SPEF2,Spermatogenic failure 43,618751
ENSG00000132600,PRMT7,"Short stature, brachydactyly, intellectual developmental disability, and seizures",617157
ENSG00000160949,TONSL,"Spondyloepimetaphyseal dysplasia, sponastrime type",271510
ENSG00000086062,B4GALT1,"Congenital disorder of glycosylation, type IId",607091
ENSG00000095380,NANS,"Spondyloepimetaphyseal dysplasia, Camera-Genevieve type",610442
ENSG00000156414,TDRD9,?Spermatogenic failure 30,618110
ENSG00000134183,GNAT2,Achromatopsia 4,613856
ENSG00000148600,CDHR1,Cone-rod dystrophy 15,613660
ENSG00000148600,CDHR1,Retinitis pigmentosa 65,613660
ENSG00000144455,SUMF1,Multiple sulfatase deficiency,272200
ENSG00000166123,GPT2,"Mental retardation, autosomal recessive 49",616281
ENSG00000112306,RPS12,Combined oxidative phosphorylation deficiency 32,617664
ENSG00000174684,B3GNT1,"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13",615287
ENSG00000171444,MCC,"Colorectal cancer, somatic",114500
ENSG00000165702,GFI1B,"Bleeding disorder, platelet-type, 17",187900
ENSG00000123552,USP45,?Leber congenital amaurosis 19,618513
ENSG00000125618,PAX8,"Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia",218700
ENSG00000196352,CD55,[Blood group Cromer],613793
ENSG00000196352,CD55,"Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy",226300
ENSG00000124370,MCEE,Methylmalonyl-CoA epimerase deficiency,251120
ENSG00000118965,WDR35,Cranioectodermal dysplasia 2,613610
ENSG00000118965,WDR35,Short-rib thoracic dysplasia 7 with or without polydactyly,614091
ENSG00000141510,TP53,"{Adrenocortical carcinoma, pediatric}",202300
ENSG00000141510,TP53,{Basal cell carcinoma 7},614740
ENSG00000141510,TP53,{Choroid plexus papilloma},260500
ENSG00000141510,TP53,{Colorectal cancer},114500
ENSG00000141510,TP53,{Glioma susceptibility 1},137800
ENSG00000141510,TP53,{Osteosarcoma},259500
ENSG00000141510,TP53,Bone marrow failure syndrome 5,618165
ENSG00000141510,TP53,"Breast cancer, somatic",114480
ENSG00000141510,TP53,"Hepatocellular carcinoma, somatic",114550
ENSG00000141510,TP53,Li-Fraumeni syndrome,151623
ENSG00000141510,TP53,"Nasopharyngeal carcinoma, somatic",607107
ENSG00000141510,TP53,"Pancreatic cancer, somatic",260350
ENSG00000141510,TP53,Galloway-Mowat syndrome 4,617730
ENSG00000149781,FERMT3,"Leukocyte adhesion deficiency, type III",612840
ENSG00000069869,NEDD4,Periventricular nodular heterotopia 7,617201
ENSG00000187446,CHP1,"?Spastic ataxia 9, autosomal recessive",618438
ENSG00000167522,ANKRD11,KBG syndrome,148050
ENSG00000247626,MARS2,?Combined oxidative phosphorylation deficiency 25,616430
ENSG00000247626,MARS2,"Spastic ataxia 3, autosomal recessive",611390
ENSG00000103313,MEFV,"Familial Mediterranean fever, AD",134610
ENSG00000103313,MEFV,"Familial Mediterranean fever, AR",249100
ENSG00000100997,ABHD12,"Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract",612674
ENSG00000000971,CFH,"{Hemolytic uremic syndrome, atypical, susceptibility to, 1}",235400
ENSG00000000971,CFH,"{Macular degeneration, age-related, 4}",610698
ENSG00000000971,CFH,Basal laminar drusen,126700
ENSG00000000971,CFH,Complement factor H deficiency,609814
ENSG00000160695,VPS11,"Leukodystrophy, hypomyelinating, 12",616683
ENSG00000145725,PPIP5K2,"Deafness, autosomal recessive 100",618422
ENSG00000176915,ANKLE2,"Microcephaly 16, primary, autosomal recessive",616681
ENSG00000164344,KLKB1,Fletcher factor (prekallikrein) deficiency,612423
ENSG00000145476,CYP4V2,Bietti crystalline corneoretinal dystrophy,210370
ENSG00000100365,NCF4,"?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III",613960
ENSG00000141543,EIF4A3,Robin sequence with cleft mandible and limb anomalies,268305
ENSG00000174177,CTU2,"Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome",618142
ENSG00000070669,ASNS,Asparagine synthetase deficiency,615574
ENSG00000110057,UNC93B1,"{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}",610551
ENSG00000153574,RPIA,Ribose 5-phosphate isomerase deficiency,608611
ENSG00000188157,AGRN,"Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects",615120
ENSG00000124299,PEPD,Prolidase deficiency,170100
ENSG00000150048,CLEC1A,"{Aspergillosis, susceptibility to}",614079
ENSG00000160294,MCM3AP,"Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development",618124
ENSG00000145217,SLC26A1,"?Nephrolithiasis, calcium oxalate",167030
ENSG00000127666,TICAM1,"{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}",614850
ENSG00000101444,AHCY,Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase,613752
ENSG00000111846,GCNT2,"[Blood group, Ii]",110800
ENSG00000111846,GCNT2,Adult i phenotype without cataract,110800
ENSG00000111846,GCNT2,Cataract 13 with adult i phenotype,116700
ENSG00000110435,PDHX,Lacticacidemia due to PDX1 deficiency,245349
ENSG00000167114,SLC27A4,Ichthyosis prematurity syndrome,608649
ENSG00000163069,SGCB,"Muscular dystrophy, limb-girdle, autosomal recessive 4",604286
ENSG00000065000,AP3D1,?Hermansky-Pudlak syndrome 10,617050
ENSG00000144647,POMGNT2,"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8",614830
ENSG00000144647,POMGNT2,"Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8",618135
ENSG00000187017,ESPN,"?Usher syndrome, type 1M",618632
ENSG00000187017,ESPN,"Deafness, autosomal recessive 36",609006
ENSG00000187017,ESPN,"Deafness, neurosensory, without vestibular involvement, autosomal dominant",609006
ENSG00000198719,DLL1,Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures,618709
ENSG00000148384,INPP5E,Joubert syndrome 1,213300
ENSG00000148384,INPP5E,"Mental retardation, truncal obesity, retinal dystrophy, and micropenis",610156
ENSG00000187796,CARD9,"Candidiasis, familial, 2, autosomal recessive",212050
ENSG00000142599,RERE,"Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart",616975
ENSG00000197971,MBP,"{Chronic infections, due to MBL deficiency}",614372
ENSG00000111669,TPI1,Hemolytic anemia due to triosephosphate isomerase deficiency,615512
ENSG00000106153,CHCHD2,"Parkinson disease 22, autosomal dominant",616710
ENSG00000139567,ACVRL1,"Telangiectasia, hereditary hemorrhagic, type 2",600376
ENSG00000015475,BID,"Short stature, brachydactyly, intellectual developmental disability, and seizures",617157
ENSG00000006744,ELAC2,"{Prostate cancer, hereditary, 2, susceptibility to}",614731
ENSG00000006744,ELAC2,Combined oxidative phosphorylation deficiency 17,615440
ENSG00000187045,TMPRSS6,Iron-refractory iron deficiency anemia,206200
ENSG00000123607,TTC21B,Nephronophthisis 12,613820
ENSG00000123607,TTC21B,Short-rib thoracic dysplasia 4 with or without polydactyly,613819
ENSG00000180228,PRKRA,Dystonia 16,612067
ENSG00000167711,SERPINF2,Alpha-2-plasmin inhibitor deficiency,262850
ENSG00000175115,PACS1,Schuurs-Hoeijmakers syndrome,615009
ENSG00000152620,NADK2,"2,4-dienoyl-CoA reductase deficiency",616034
ENSG00000133104,SPG20,Troyer syndrome,275900
ENSG00000141837,CACNA1A,"Epileptic encephalopathy, early infantile, 42",617106
ENSG00000141837,CACNA1A,"Episodic ataxia, type 2",108500
ENSG00000141837,CACNA1A,"Migraine, familial hemiplegic, 1",141500
ENSG00000141837,CACNA1A,"Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia",141500
ENSG00000141837,CACNA1A,Spinocerebellar ataxia 6,183086
ENSG00000112182,BACH2,Immunodeficiency 60,618394
ENSG00000160712,IL6R,"[Interleukin 6, serum level of, QTL]",614752
ENSG00000160712,IL6R,"[Interleukin-6 receptor, soluble, serum level of, QTL]",614689
ENSG00000127415,IDUA,Mucopolysaccharidosis Ih,607014
ENSG00000127415,IDUA,Mucopolysaccharidosis Ih/s,607015
ENSG00000127415,IDUA,Mucopolysaccharidosis Is,607016
ENSG00000165006,UBAP1,"Spastic paraplegia 80, autosomal dominant",618418
ENSG00000138160,KIF11,"Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation",152950
ENSG00000156171,DRAM2,Cone-rod dystrophy 21,616502
ENSG00000116711,PLA2G4A,"Gastrointestinal ulceration, recurrent, with dysfunctional platelets",618372
ENSG00000074071,MRPS34,Combined oxidative phosphorylation deficiency 32,617664
ENSG00000145354,CISD2,Wolfram syndrome 2,604928
ENSG00000124614,RPS10,Diamond-Blackfan anemia 9,613308
ENSG00000122359,ANXA11,Amytrophic lateral sclerosis 23,617839
ENSG00000170266,GLB1,"GM1-gangliosidosis, type I",230500
ENSG00000170266,GLB1,"GM1-gangliosidosis, type II",230600
ENSG00000170266,GLB1,"GM1-gangliosidosis, type III",230650
ENSG00000170266,GLB1,Mucopolysaccharidosis type IVB (Morquio),253010
ENSG00000166347,CYB5A,Methemoglobinemia and ambiguous genitalia,250790
ENSG00000171503,ETFDH,Glutaric acidemia IIC,231680
ENSG00000181804,SLC9A9,{?Autism susceptibility 16},613410
ENSG00000106009,BRAT1,Neurodevelopmental disorder with cerebellar atrophy and with or without seizures,618056
ENSG00000106009,BRAT1,"Rigidity and multifocal seizure syndrome, lethal neonatal",614498
ENSG00000160299,PCNT,"Nephrotic syndrome, type 17",618176
ENSG00000160299,PCNT,"Microcephalic osteodysplastic primordial dwarfism, type II",210720
ENSG00000141013,GAS8,"Ciliary dyskinesia, primary, 33",616726
ENSG00000112592,TBP,"{Parkinson disease, susceptibility to}",168600
ENSG00000112592,TBP,Spinocerebellar ataxia 17,607136
ENSG00000112592,TBP,"{Endometrial cancer, familial}",608089
ENSG00000112592,TBP,"Colorectal cancer, hereditary nonpolyposis, type 5",614350
ENSG00000112592,TBP,Mismatch repair cancer syndrome,276300
ENSG00000137841,PLCB2,Platelet PLC beta-2 deficiency,NA
ENSG00000198799,LRIG2,Urofacial syndrome 2,615112
ENSG00000137275,RIPK1,Autoinflammation with episodic fever and lymphadenopathy,618852
ENSG00000137275,RIPK1,Immunodeficiency 57 with autoinflammation,618108
ENSG00000137267,TUBB2A,"Cortical dysplasia, complex, with other brain malformations 5",615763
ENSG00000125814,NAPB,"Amyotrophy, hereditary neuralgic",162100
ENSG00000111276,CDKN1B,"Multiple endocrine neoplasia, type IV",610755
ENSG00000137713,PPP2R1B,"Lung cancer, somatic",211980
ENSG00000105568,PPP2R1A,"Mental retardation, autosomal dominant 36",616362
ENSG00000123191,ATP7B,Wilson disease,277900
ENSG00000143226,FCGR2A,"{Lupus nephritis, susceptibility to}",152700
ENSG00000143226,FCGR2A,"{Malaria, severe, susceptibility to}",611162
ENSG00000143226,FCGR2A,"{Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}",219700
ENSG00000042317,SPATA7,Leber congenital amaurosis 3,604232
ENSG00000042317,SPATA7,"Retinitis pigmentosa, juvenile, autosomal recessive",604232
ENSG00000116133,DHCR24,Desmosterolosis,602398
ENSG00000185100,ADSSL1,"Myopathy, distal, 5",617030
ENSG00000151503,NCAPD3,"Microcephaly 22, primary, autosomal recessive",617984
ENSG00000073578,SDHA,"Cardiomyopathy, dilated, 1GG",613642
ENSG00000073578,SDHA,Leigh syndrome,256000
ENSG00000073578,SDHA,Mitochondrial respiratory chain complex II deficiency,252011
ENSG00000073578,SDHA,Paragangliomas 5,614165
ENSG00000174227,PIGG,"Mental retardation, autosomal recessive 53",616917
ENSG00000040531,CTNS,"Cystinosis, atypical nephropathic",219800
ENSG00000040531,CTNS,"Cystinosis, late-onset juvenile or adolescent nephropathic",219900
ENSG00000040531,CTNS,"Cystinosis, nephropathic",219800
ENSG00000040531,CTNS,"Cystinosis, ocular nonnephropathic",219750
ENSG00000184381,PLA2G6,Infantile neuroaxonal dystrophy 1,256600
ENSG00000184381,PLA2G6,Neurodegeneration with brain iron accumulation 2B,610217
ENSG00000184381,PLA2G6,"Parkinson disease 14, autosomal recessive",612953
ENSG00000186716,BCR,"Leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic",613065
ENSG00000186716,BCR,"Leukemia, chronic myeloid, Philadelphia chromosome positive, somatic",608232
ENSG00000124164,VAPB,Amyotrophic lateral sclerosis 8,608627
ENSG00000124164,VAPB,"Spinal muscular atrophy, late-onset, Finkel type",182980
ENSG00000101152,DNAJC5,"Ceroid lipofuscinosis, neuronal, 4, Parry type",162350
ENSG00000117480,FAAH,"{Drug addiction, susceptibility to}",606581
ENSG00000117480,FAAH,"Spastic paraplegia 35, autosomal recessive",612319
ENSG00000085998,POMGNT1,"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3",253280
ENSG00000085998,POMGNT1,"Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3",613151
ENSG00000085998,POMGNT1,"Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3",613157
ENSG00000085998,POMGNT1,Retinitis pigmentosa 76,617123
ENSG00000168646,AXIN2,"Colorectal cancer, somatic",114500
ENSG00000168646,AXIN2,Oligodontia-colorectal cancer syndrome,608615
ENSG00000047578,KIAA0556,Joubert syndrome 26,616784
ENSG00000113161,HMGCR,[Low density lipoprotein cholesterol level QTL 3],NA
ENSG00000113161,HMGCR,"[Statins, attenuated cholesterol lowering by]",NA
ENSG00000161653,NAGS,N-acetylglutamate synthase deficiency,237310
ENSG00000185760,KCNQ5,"Mental retardation, autosomal dominant 46",617601
ENSG00000105372,RPS19,Diamond-Blackfan anemia 1,105650
ENSG00000131187,F12,"Angioedema, hereditary, type III",610618
ENSG00000131187,F12,Factor XII deficiency,234000
ENSG00000101365,IDH3B,Retinitis pigmentosa 46,612572
ENSG00000150540,HNMT,"{Asthma, susceptibility to}",600807
ENSG00000150540,HNMT,"Mental retardation, autosomal recessive 51",616739
ENSG00000122643,NT5C3A,"Anemia, hemolytic, due to UMPH1 deficiency",266120
ENSG00000182372,CLN8,"Ceroid lipofuscinosis, neuronal, 8",600143
ENSG00000182372,CLN8,"Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant",610003
ENSG00000109501,WFS1,?Cataract 41,116400
ENSG00000109501,WFS1,"{Diabetes mellitus, noninsulin-dependent, association with}",125853
ENSG00000109501,WFS1,"Deafness, autosomal dominant 6/14/38",600965
ENSG00000109501,WFS1,Wolfram syndrome 1,222300
ENSG00000109501,WFS1,"Wolfram-like syndrome, autosomal dominant",614296
ENSG00000048392,RRM2B,Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy),612075
ENSG00000048392,RRM2B,Mitochondrial DNA depletion syndrome 8B (MNGIE type),612075
ENSG00000048392,RRM2B,"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5",613077
ENSG00000153107,ANAPC1,"Rothmund-Thomson syndrome, type 1",618625
ENSG00000168827,GFM1,Combined oxidative phosphorylation deficiency 1,609060
ENSG00000125863,MKKS,Bardet-Biedl syndrome 6,605231
ENSG00000125863,MKKS,McKusick-Kaufman syndrome,236700
ENSG00000116062,MSH6,"{Endometrial cancer, familial}",608089
ENSG00000116062,MSH6,"Colorectal cancer, hereditary nonpolyposis, type 5",614350
ENSG00000116062,MSH6,Mismatch repair cancer syndrome,276300
ENSG00000163755,HPS3,Hermansky-Pudlak syndrome 3,614072
ENSG00000163754,GYG1,?Glycogen storage disease XV,613507
ENSG00000163754,GYG1,Polyglucosan body myopathy 2,616199
ENSG00000177370,TIMM22,?Combined oxidative phosphorylation deficiency 43,618851
ENSG00000110367,DDX6,Intellectual developmental disorder with impaired language and dysmorphic facies,618653
ENSG00000157978,LDLRAP1,"Hypercholesterolemia, familial, 4",603813
ENSG00000105048,TNNT1,"Nemaline myopathy 5, Amish type",605355
ENSG00000073921,PICALM,"Leukemia, acute myeloid, somatic",601626
ENSG00000118046,STK11,"Melanoma, malignant, somatic",NA
ENSG00000118046,STK11,"Pancreatic cancer, somatic",260350
ENSG00000118046,STK11,Peutz-Jeghers syndrome,175200
ENSG00000118046,STK11,"Testicular tumor, somatic",273300
ENSG00000113273,ARSB,Mucopolysaccharidosis type VI (Maroteaux-Lamy),253200
ENSG00000060237,WNK1,"Neuropathy, hereditary sensory and autonomic, type II",201300
ENSG00000060237,WNK1,"Pseudohypoaldosteronism, type IIC",614492
ENSG00000168028,RPSA,"Asplenia, isolated congenital",271400
ENSG00000185527,PDE6G,Retinitis pigmentosa 57,613582
ENSG00000187726,DNAJB13,"Ciliary dyskinesia, primary, 34",617091
ENSG00000198513,ATL1,"Neuropathy, hereditary sensory, type ID",613708
ENSG00000198513,ATL1,"Spastic paraplegia 3A, autosomal dominant",182600
